Linked Data
ClinVar Variation Id:
282624
dbSNP Id:
rs148860301
ExAC:
2:71894608 G / A
gnomAD v2:
2-71894608-G-A
gnomAD v3:
2-71667478-G-A
gnomAD v4:
2-71667478-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71667478G>A , CM000664.2:g.71667478G>A | GRCh38 |
| NC_000002.11:g.71894608G>A , CM000664.1:g.71894608G>A | GRCh37 |
| NC_000002.10:g.71748116G>A | NCBI36 |
| NG_008694.1:g.218856G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2834G>A | ENSP00000513536.1:p.Arg945Gln | |
| ENST00000698058.1:c.2051G>A | ENSP00000513537.1:p.Arg684Gln | |
| ENST00000698059.1:c.2159G>A | ENSP00000513538.1:p.Arg720Gln | |
| ENST00000258104.8:c.5303G>A MANE Plus Clinical | ENSP00000258104.3:p.Arg1768Gln | |
| ENST00000410020.8:c.5420G>A MANE Select | ENSP00000386881.3:p.Arg1807Gln | |
| ENST00000258104.7:c.5303G>A | ENSP00000258104.3:p.Arg1768Gln | |
| ENST00000394120.6:c.5306G>A | ENSP00000377678.2:p.Arg1769Gln | |
| ENST00000409366.5:c.5369G>A | ENSP00000386512.1:p.Arg1790Gln | |
| ENST00000409582.7:c.5417G>A | ENSP00000386547.3:p.Arg1806Gln | |
| ENST00000409651.5:c.5399G>A | ENSP00000386683.1:p.Arg1800Gln | |
| ENST00000409744.5:c.5327G>A | ENSP00000386285.1:p.Arg1776Gln | |
| ENST00000409762.5:c.5354G>A | ENSP00000387137.1:p.Arg1785Gln | |
| ENST00000410020.7:c.5420G>A | ENSP00000386881.3:p.Arg1807Gln | |
| ENST00000410041.1:c.5357G>A | ENSP00000386617.1:p.Arg1786Gln | |
| ENST00000413539.6:c.5396G>A | ENSP00000407046.2:p.Arg1799Gln | |
| ENST00000429174.6:c.5366G>A | ENSP00000398305.2:p.Arg1789Gln | |
| ENST00000479049.6:n.2188G>A | ||
| NM_001130455.1:c.5306G>A | NP_001123927.1:p.Arg1769Gln | |
| NM_001130976.1:c.5261G>A | NP_001124448.1:p.Arg1754Gln | |
| NM_001130977.1:c.5324G>A | NP_001124449.1:p.Arg1775Gln | |
| NM_001130978.1:c.5366G>A | NP_001124450.1:p.Arg1789Gln | |
| NM_001130979.1:c.5396G>A | NP_001124451.1:p.Arg1799Gln | |
| NM_001130980.1:c.5354G>A | NP_001124452.1:p.Arg1785Gln | |
| NM_001130981.1:c.5417G>A | NP_001124453.1:p.Arg1806Gln | |
| NM_001130982.1:c.5399G>A | NP_001124454.1:p.Arg1800Gln | |
| NM_001130983.1:c.5369G>A | NP_001124455.1:p.Arg1790Gln | |
| NM_001130984.1:c.5327G>A | NP_001124456.1:p.Arg1776Gln | |
| NM_001130985.1:c.5357G>A | NP_001124457.1:p.Arg1786Gln | |
| NM_001130986.1:c.5264G>A | NP_001124458.1:p.Arg1755Gln | |
| NM_001130987.1:c.5420G>A | NP_001124459.1:p.Arg1807Gln | |
| NM_003494.3:c.5303G>A | NP_003485.1:p.Arg1768Gln | |
| XM_005264584.3:c.5462G>A | XP_005264641.1:p.Arg1821Gln | |
| XM_005264585.3:c.5459G>A | XP_005264642.1:p.Arg1820Gln | |
| XM_005264584.4:c.5462G>A | XP_005264641.1:p.Arg1821Gln | |
| XM_005264585.5:c.5459G>A | XP_005264642.1:p.Arg1820Gln | |
| NM_001130987.2:c.5420G>A MANE Select | NP_001124459.1:p.Arg1807Gln | |
| NM_001130455.2:c.5306G>A | NP_001123927.1:p.Arg1769Gln | |
| NM_001130976.2:c.5261G>A | NP_001124448.1:p.Arg1754Gln | |
| NM_001130977.2:c.5324G>A | NP_001124449.1:p.Arg1775Gln | |
| NM_001130978.2:c.5366G>A | NP_001124450.1:p.Arg1789Gln | |
| NM_001130979.2:c.5396G>A | NP_001124451.1:p.Arg1799Gln | |
| NM_001130980.2:c.5354G>A | NP_001124452.1:p.Arg1785Gln | |
| NM_001130981.2:c.5417G>A | NP_001124453.1:p.Arg1806Gln | |
| NM_001130982.2:c.5399G>A | NP_001124454.1:p.Arg1800Gln | |
| NM_001130983.2:c.5369G>A | NP_001124455.1:p.Arg1790Gln | |
| NM_001130984.2:c.5327G>A | NP_001124456.1:p.Arg1776Gln | |
| NM_001130985.2:c.5357G>A | NP_001124457.1:p.Arg1786Gln | |
| NM_001130986.2:c.5264G>A | NP_001124458.1:p.Arg1755Gln | |
| NM_003494.4:c.5303G>A MANE Plus Clinical | NP_003485.1:p.Arg1768Gln |